GENETIC ENCYCLOPEDIA
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gene: CYB5R4

id51167
symbolCYB5R4
organismHomo sapiens
full namecytochrome b5 reductase 4
summaryNCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by OMIM, Jan 2010]
variant-disease

GRCh37/hg19 6q14.2(chr6:84452336-84742729)x1 AND See cases

Single allele AND Large for gestational age

GRCh37/hg19 6q14.2(chr6:84480837-84803980)x1 AND not provided

Single allele AND Normal pregnancy

GRCh37/hg19 6q14.2-14.3(chr6:84364140-85044270)x3 AND See cases

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